Property Summary

NCBI Gene PubMed Count 80
Grant Count 524
R01 Count 389
Funding $43,717,866.23
PubMed Score 96.60
PubTator Score 226.45

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma 2.000 0.000
psoriasis 3.100 0.000
group 3 medulloblastoma 2.300 0.000
atypical teratoid / rhabdoid tumor 1.500 0.000
medulloblastoma, large-cell 2.100 0.000
primitive neuroectodermal tumor 1.200 0.007
lung adenocarcinoma 1.200 0.000

Synonym

Accession P28340 Q8NER3 Q96H98
Symbols CDC2
MDPL
POLD
CRCS10

Gene

 GWAS Trait (1)

Gene RIF (39)

PMID Text
26748215 Mutations in POLE and POLD1 in south east Asia women with grade 3 endometrioid endometrial carcinomas are associated with improved recurrence free survival.
26271349 On the sequence, Escherichia coli oriC plasmid DNA, it was found hPold replicates DNA across the CCG repeats but hPole stalls at the CCG repeats even if the secondary structure is eliminated by a single stranded binding protein.
26172944 POLD1 germline mutations can result in a variably expressed and probably underdiagnosed segmental progeroid syndrome.
26087769 POLD1 plays important role in the regulation of cell cycle progression and DNA damage repair
25370038 None of the 1188 patients carried the POLD1 p.(Ser478Asn) variant. POLE germline variant carriers are also associated with a microsatellite instable colorectal cancer
25241845 analysis of phenotype of variants of the essential replicative polymerase-delta carrying missense mutations in its active site
24509466 Germline mutations in the proofreading domains of 2 DNA polymerases (POLE and POLD1) have been associated with a dominantly inherited, highly penetrant syndrome of oligo adenomatous polyposis and early-age-of-diagnosis colorectal and endometrial cancer.
24501277 POLE and POLD1 mutations explain a fraction of familial CRC and polyposis. Sequencing the proofreading domains of POLE and POLD1 should be considered in routine genetic diagnostics.
23770608 a single-codon deletion in POLD1 affecting the polymerase active site causes a markedly different phenotype that includes lipodystrophy.
23585564 coordinated processing of 3'-slipped (CAG)n/(CTG)n hairpins by polymerases delta and beta on during DNA synthesis induces CAG/CTG repeat expansions.
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AA Sequence

MDGKRRPGPGPGVPPKRARGGLWDDDDAPRPSQFEEDLALMEEMEAEHRLQEQEEEELQSVLEGVADGQV      1 - 70
PPSAIDPRWLRPTPPALDPQTEPLIFQQLEIDHYVGPAQPVPGGPPPSRGSVPVLRAFGVTDEGFSVCCH     71 - 140
IHGFAPYFYTPAPPGFGPEHMGDLQRELNLAISRDSRGGRELTGPAVLAVELCSRESMFGYHGHGPSPFL    141 - 210
RITVALPRLVAPARRLLEQGIRVAGLGTPSFAPYEANVDFEIRFMVDTDIVGCNWLELPAGKYALRLKEK    211 - 280
ATQCQLEADVLWSDVVSHPPEGPWQRIAPLRVLSFDIECAGRKGIFPEPERDPVIQICSLGLRWGEPEPF    281 - 350
LRLALTLRPCAPILGAKVQSYEKEEDLLQAWSTFIRIMDPDVITGYNIQNFDLPYLISRAQTLKVQTFPF    351 - 420
LGRVAGLCSNIRDSSFQSKQTGRRDTKVVSMVGRVQMDMLQVLLREYKLRSYTLNAVSFHFLGEQKEDVQ    421 - 490
HSIITDLQNGNDQTRRRLAVYCLKDAYLPLRLLERLMVLVNAVEMARVTGVPLSYLLSRGQQVKVVSQLL    491 - 560
RQAMHEGLLMPVVKSEGGEDYTGATVIEPLKGYYDVPIATLDFSSLYPSIMMAHNLCYTTLLRPGTAQKL    561 - 630
GLTEDQFIRTPTGDEFVKTSVRKGLLPQILENLLSARKRAKAELAKETDPLRRQVLDGRQLALKVSANSV    631 - 700
YGFTGAQVGKLPCLEISQSVTGFGRQMIEKTKQLVESKYTVENGYSTSAKVVYGDTDSVMCRFGVSSVAE    701 - 770
AMALGREAADWVSGHFPSPIRLEFEKVYFPYLLISKKRYAGLLFSSRPDAHDRMDCKGLEAVRRDNCPLV    771 - 840
ANLVTASLRRLLIDRDPEGAVAHAQDVISDLLCNRIDISQLVITKELTRAASDYAGKQAHVELAERMRKR    841 - 910
DPGSAPSLGDRVPYVIISAAKGVAAYMKSEDPLFVLEHSLPIDTQYYLEQQLAKPLLRIFEPILGEGRAE    911 - 980
AVLLRGDHTRCKTVLTGKVGGLLAFAKRRNCCIGCRTVLSHQGAVCEFCQPRESELYQKEVSHLNALEER    981 - 1050
FSRLWTQCQRCQGSLHEDVICTSRDCPIFYMRKKVRKDLEDQEQLLRRFGPPGPEAW                1051 - 1107
//

Publication (83)

PMID Year Title
26748215 2016 Mutation spectrum of POLE and POLD1 mutations in South East Asian women presenting with grade 3 endometrioid endometrial carcinomas.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26271349 2015 Short CCG repeat in huntingtin gene is an obstacle for replicative DNA polymerases, potentially hampering progression of replication fork.
26172944 2015 POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
26087769 2015 Human POLD1 modulates cell cycle progression and DNA damage repair.
25370038 2015 Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
25241845 2014 Phenotypic characterization of missense polymerase-? mutations using an inducible protein-replacement system.
24939902 2014 CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis.
24509466 2014 Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition.
24501277 2014 New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
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